Skip to main content
DNA Labs India

PEX11B Gene Peroxisome biogenesis disorder 14B NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

PEX11B Gene Peroxisome biogenesis disorder 14B NGS Genetic Test

Short Name: PEX11B NGS

Also known as: PEX11B-related peroxisome biogenesis disorder, PBD14B, Peroxisome biogenesis disorder 14B

PEX11B Gene Peroxisome biogenesis disorder 14B NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in Reports are typically delivered in 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

Genetic🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To identify disease-relevant variants in the PEX11B gene by NGS. This supports confirmation of a clinical diagnosis of peroxisome biogenesis disorder 14B, enables appropriate medical surveillance, and assists family counselling for hereditary risk.

Test Code
4454
Price
₹20,000
Sample Type
Blood or Extracted DNA or One Drop Blood on FTA Card
Result Time
Reports are typically delivered in 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. A pre-test genetic counselling session is recommended to draw a pedigree chart and collect relevant clinical history of the patient and affected family members.

Method: Venipuncture or FTA spot collection

Step 2

Laboratory Analysis

A small blood sample is collected by a trained phlebotomist. If an FTA card is used, one drop of blood is placed on the card. Extracted DNA samples can also be accepted.

Step 3

Report Delivery

The sample is sent to the laboratory for NGS analysis. Clinical reports are normally issued within 3 to 4 weeks.

Timeline: Reports are typically delivered in 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:Pre-test genetic counselling is recommended to explain the purpose, limitations, and possible outcomes of the test. The clinician may also request biochemical tests such as plasma very long-chain fatty acids to support the diagnosis.
2
During the Test:The sample collection is quick and minimally invasive. NGS analysis is performed in the laboratory over the following weeks.
3
After the Test:Once the report is issued, a telephonic or in-person genetic counselling session can be arranged to discuss the results and next steps.

About This Test

Who Should Get This Test

To identify disease-relevant variants in the PEX11B gene by NGS. This supports confirmation of a clinical diagnosis of peroxisome biogenesis disorder 14B, enables appropriate medical surveillance, and assists family counselling for hereditary risk.

How to Prepare

  • Please carry the test requisition form and relevant clinical records
  • Inform the laboratory if the patient has had a recent blood transfusion
  • No fasting is required before sample collection
  • Ensure Pediatric documentation and consent forms are completed for minors

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"As a referring clinician, I recommend genetic testing when clinical and biochemical findings point toward a peroxisomal disorder; PEX11B NGS provides a focused molecular approach with an accessible cost point."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One Drop Blood on FTA Card
Sample VolumeAs per laboratory protocol
ContainerEDTA tube / FTA card / DNA vial
Collection MethodVenipuncture or FTA spot collection

Sample Stability

EDTA blood: stable for 24-48 hours at room temperature
FTA card: stable for several days at room temperature
Extracted DNA: stable at -20°C for longer periods
Sample Rejection Criteria:
  • Incorrectly labelled or unmatched sample
  • Severely hemolyzed blood sample
  • Sample received in an inappropriate container
  • Incomplete clinical information or missing consent

Understanding Your Results

This test is designed for clinical diagnostic use. Variants are classified according to standard guidelines and current medical evidence. The final report should be interpreted by a qualified clinician in the context of the patient's complete clinical, biochemical, and imaging findings.
📊

Pathogenic or likely pathogenic variant detected

This finding is consistent with a molecular diagnosis of PBD14B when correlated with clinical features.

📊

No pathogenic variant detected

No disease-causing variant was identified in the PEX11B gene by this assay; additional genetic testing may be considered if clinical suspicion remains high.

📊

Variant of uncertain significance (VUS) detected

A genetic change was found, but its clinical significance is not yet established. Family testing and further evaluation are recommended.

📊

Low coverage in any coding region

Part of the gene did not meet acceptable sequencing depth; a complementary method may be needed to resolve the region.

⚠️ When to Consult a Doctor:

Please consult a neurologist, pediatrician, or clinical geneticist if there is unexplained developmental delay, seizures, liver dysfunction, hearing or vision impairment, abnormal bone growth, or a family history of a peroxisomal disorder.

Limitations

  • ⚠Standard NGS may not detect large deletions, duplications, or complex rearrangements
  • ⚠Variants of uncertain significance may be reported and may require family studies
  • ⚠A negative result does not exclude all causes of peroxisome biogenesis disorders
  • ⚠Variant classifications may change over time as new scientific evidence becomes available

Risks & Considerations

  • ●Slight discomfort or bruising at the blood collection site
  • ●Rare risk of vasovagal syncope during blood collection
  • ●No significant risk associated with FTA card collection

Interfering Factors

  • ●Poor quality or degraded DNA
  • ●Contamination during sample collection or handling
  • ●Incomplete clinical or family history
  • ●Blood sample received after prolonged transport

Frequently Asked Questions

What is the PEX11B gene?
The PEX11B gene provides instructions for making a protein involved in peroxisome formation and proliferation. Peroxisomes are essential cell organelles that help with lipid metabolism, detoxification, and protection against oxidative stress.
What is peroxisome biogenesis disorder 14B?
Peroxisome biogenesis disorder 14B, also called PBD14B, is a rare genetic condition caused by mutations in the PEX11B gene. It affects the formation and function of peroxisomes, leading to metabolic dysfunction and various developmental abnormalities.
What are the common symptoms of PBD14B?
Common symptoms may include delayed development, seizures, vision impairment, hearing loss, liver dysfunction, and abnormal bone growth. The severity and age of onset can vary from infancy to adulthood.
How is PBD14B diagnosed?
PBD14B is typically diagnosed through clinical evaluation, biochemical testing, imaging such as MRI, liver function tests, and genetic testing. NGS genetic testing helps identify mutations in the PEX11B gene.
What is the cost of the PEX11B NGS genetic test?
The cost of the PEX11B gene NGS genetic test at DNA Labs India is Rs 20000. Free home sample collection is available for online bookings across India.
What sample is required for this test?
The test can be done using blood, extracted DNA, or one drop of blood on an FTA card. The sample requirement will be confirmed by the laboratory during booking.
How long do the reports take?
Reports are usually available within 3 to 4 weeks after the sample is received by the laboratory.
Is fasting required before the test?
No, fasting is not required for this PEX11B NGS genetic test. You can eat and drink normally before sample collection.
Can NGS detect all PEX11B mutations?
NGS can detect most sequence variants in the coding and splice-site regions of the PEX11B gene. However, large deletions, duplications, or complex rearrangements may require additional testing methods.
Will this test tell me the prognosis?
This test helps confirm the diagnosis, but it does not predict the exact prognosis. The clinical course depends on symptom severity, organ involvement, and the quality of supportive medical care. A doctor should interpret the result along with clinical findings.
Should I have genetic counselling before and after the test?
Yes, genetic counselling is strongly recommended before and after testing. It helps you understand the purpose, possible outcomes, medical implications, and family-related aspects of the test result.
What if a variant of uncertain significance is found?
If a variant of uncertain significance is detected, the laboratory will report it and provide guidance. Family testing and additional clinical evaluation may help determine whether the variant is disease-causing. A genetic counselor or specialist doctor should explain the next steps.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

Related Tests

ACAT1 Gene Methylacetoacetic aciduria NGS Genetic Test

₹20,000

SERHL2 Gene Serine hydrolase deficiency, SERHL2 related NGS Genetic Test

₹20,000

Comprehensive Ear Nose Throat Panel NGS Genetic Test

₹20,000

ATAC Sequencing

₹48,000

PTF1A Gene Pancreatic and cerebellar agenesis NGS Genetic Test

₹20,000

IARS2 Gene Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia NGS Genetic Test

₹20,000
For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.